| 產(chǎn)品編號 | bs-13209R-BF594 |
| 英文名稱 | Rabbit Anti-FOXRED1/BF594 Conjugated antibody |
| 中文名稱 | BF594標(biāo)記的單跨膜蛋白FOXRED1抗體 |
| 別 名 | FAD dependent oxidoreductase domain containing 1; FAD dependent oxidoreductase domain containing protein 1; FAD-dependent oxidoreductase domain-containing protein 1; FOXRED 1; FOXRED1; FP634; FXRD1_HUMAN; H17. |
| 規(guī)格價(jià)格 | 100ul/2980元 購買 大包裝/詢價(jià) |
| 說 明 書 | 100ul |
| 研究領(lǐng)域 | 腫瘤 細(xì)胞生物 神經(jīng)生物學(xué) 信號轉(zhuǎn)導(dǎo) 新陳代謝 |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | Mouse, (predicted: Human, Rat, Dog, Pig, Horse, Rabbit, ) |
| 產(chǎn)品應(yīng)用 | ICC=1:50-200 IF=1:50-200
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 54kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human FOXRED1 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 儲 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存條件 | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| 產(chǎn)品介紹 |
background: FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. Subcellular Location: Membrane; Single-pass membrane protein (Potential). DISEASE: Defects in FOXRED1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Database links: Entrez Gene: 55572 Human Entrez Gene: 235169 Mouse GenBank: NP_060017.1 Human Omim: 613622 Human SwissProt: Q4R510 Cynomolgus Monkey SwissProt: Q96CU9 Human SwissProt: Q3TQB2 Mouse Unigene: 317190 Human Unigene: 138512 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. Leigh綜合征的發(fā)生率占新生兒的1/40,000.具有不同的基因類型,但臨床具有共性特點(diǎn),一般發(fā)病在1歲或以后,表現(xiàn)為肌張力減退,發(fā)作性嘔吐,共濟(jì)失調(diào),舞蹈徐動癥和過度通氣,腦病表現(xiàn)為喪失語言發(fā)育能力,運(yùn)動異常表現(xiàn)為痙攣性運(yùn)動和異常呼吸節(jié)律,出現(xiàn)腦干或基底節(jié)損害體征和聽力喪失,小腦損害導(dǎo)致共濟(jì)失調(diào),眼震和張力失常.眼科癥狀表現(xiàn)為視力喪失和眼肌麻痹.出現(xiàn)亞臨床的周圍神經(jīng)病,出現(xiàn)神經(jīng)傳導(dǎo)速度減慢45%.臨床體征可以在感染或糖尿病后出現(xiàn).病程進(jìn)展出現(xiàn)運(yùn)動或智能減退.常在發(fā)病后2年內(nèi)死亡. |
